Bourneville-Pringle disease

Bour·ne·ville-Pring·le dis·ease

(būrn-vēl' pring'gĕl), facial lesions with tuberous sclerosis, first reported as adenoma sebaceum, but now recognized as angiofibromas.

tuberous sclerosis type 1

An autosomal dominant multi-system disorder (OMIM:191100) characterised by hamartomas and developmental defects, which primarily affects the brain, kidneys, heart and skin.
Clinical findings
Range from benign hypopigmented skin macules, to profound mental retardation with intractable seizures and premature death due to disease-associated causes.

Molecular pathology
Defects of TSC1, which encodes a putative tumour suppressor, cause tuberous sclerosis type 1.

Bourneville,

Désiré-Magloire, French physician, 1840-1909. Bourneville disease - phacomatosis characterized by the formation of multisystem hamartomas. Synonym(s): Bourneville syndrome; tuberous sclerosisBourneville syndrome - Synonym(s): Bourneville diseaseBourneville-Pringle disease - facial lesions with tuberous sclerosis.

Pringle,

John James, English dermatologist, 1855-1922. Bourneville-Pringle disease - see under BournevillePringle disease - obsolete misnomer for a hamartoma occurring on the face. Synonym(s): adenoma sebaceum

单词	bourneville-pringle disease
释义	DictionarySeetuberous sclerosis Bourneville-Pringle disease Bour·ne·ville-Pring·le dis·ease (būrn-vēl' pring'gĕl), facial lesions with tuberous sclerosis, first reported as adenoma sebaceum, but now recognized as angiofibromas. tuberous sclerosis type 1 An autosomal dominant multi-system disorder (OMIM:191100) characterised by hamartomas and developmental defects, which primarily affects the brain, kidneys, heart and skin. Clinical findings Range from benign hypopigmented skin macules, to profound mental retardation with intractable seizures and premature death due to disease-associated causes. Molecular pathology Defects of TSC1, which encodes a putative tumour suppressor, cause tuberous sclerosis type 1. Bourneville, Désiré-Magloire, French physician, 1840-1909. Bourneville disease - phacomatosis characterized by the formation of multisystem hamartomas. Synonym(s): Bourneville syndrome; tuberous sclerosisBourneville syndrome - Synonym(s): Bourneville diseaseBourneville-Pringle disease - facial lesions with tuberous sclerosis. Pringle, John James, English dermatologist, 1855-1922. Bourneville-Pringle disease - see under BournevillePringle disease - obsolete misnomer for a hamartoma occurring on the face. Synonym(s): adenoma sebaceum
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